POLG Pathogenicity Prediction Server

1 patient data entry in database for mutations A957V and I1185T.

Entry
#

Mutations
allele 1	allele 2

Clinical representation

Symptoms

Age group

Age of onset

Age of patient

Age of death

Reference

523

A957V1

I1185T1

Myocerebrohepatopathy spectrum (MCHS) disorder. Poor sucking and failure to thrive since, frequent vomiting, developmental regression, developmental delay, emesis, poor weight gain, lethargy. Hypotonia and hepatomegaly. Laboratory tests showed hepatocellular dysfunction and elevated protein and lactate levels in the cerebrospinal fluid. mtDNA depletion. Proximal dominant muscular weakness. All deep tendon reflexes were weak. Myoclonic jerks of the right and left arms were infrequently observed. She died of multiple organ failure caused by hepatic failure at 8 months of age.

-	liver failure

-	failure to thrive

hypotonic

-	developmental delay

vomiting

-	hepatomegaly

infantile

0.333

0.5

0.666

Montassir et al, 2014;

[view data]

^1-5 pathogenic cluster assignment of mutations. Mutations displayed without a superscript number are outside of the assigned pathogenic clusters. See cluster definitions for details.

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